Publications by authors named "Carole Corsini"

18Publications

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Genet Med 2020 Sep 19;22(9):1533-1541. Epub 2020 May 19.

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, APHP Centre Université de Paris and Inserm UMR_S1016, Institut Cochin, Université de Paris, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0828-zDOI Listing
September 2020

Is BRCA2 involved in early onset colorectal cancer risk?

Clin Genet 2020 Apr 26;97(4):668-669. Epub 2019 Dec 26.

Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.

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http://dx.doi.org/10.1111/cge.13679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078894PMC
April 2020

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length.

Stem Cell Res 2019 08 27;39:101515. Epub 2019 Jul 27.

Laboratory of Genome and Stem Cell Plasticity in Development and Aging, Institute for Regenerative Medicine and Biotherapy, INSERM UMR1183, Univ Montpellier, Montpellier, France; SAFE-iPSC Facility INGESTEM, Univ Montpellier, CHU de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101515DOI Listing
August 2019

Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.

Hum Mutat 2019 06;40(6):716-720

Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France.

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http://dx.doi.org/10.1002/humu.23725DOI Listing
June 2019

[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].

Bull Cancer 2018 Oct 27;105(10):907-917. Epub 2018 Sep 27.

Institut Paoli-Calmettes, oncogénétique clinique, département d'anticipation et de suivi des cancers, 232, boulevard Sainte-Marguerite, 13009 Marseille, France; Aix-Marseille université, Inserm, IRD, SESSTIM, 13000 Marseille, France.

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http://dx.doi.org/10.1016/j.bulcan.2018.08.003DOI Listing
October 2018

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Eur J Hum Genet 2014 Jan 10;22(1):136-9. Epub 2013 Apr 10.

1] Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France [2] Unité INSERM U844, Institut des Neurosciences de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2013.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865400PMC
January 2014